Aspartylglucosaminuria Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_0050461)
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Genes

111 genes co-occuring with the disease Aspartylglucosaminuria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
AGA aspartylglucosaminidase 3.663
CLN3 ceroid-lipofuscinosis, neuronal 3 2.184
NGLY1 N-glycanase 1 2.165
FUCA1 fucosidase, alpha-L- 1, tissue 2.061
NAGA N-acetylgalactosaminidase, alpha- 2.033
MANBA mannosidase, beta A, lysosomal 1.986
CTNS cystinosin, lysosomal cystine transporter 1.958
MAN2B1 mannosidase, alpha, class 2B, member 1 1.919
IDUA iduronidase, alpha-L- 1.907
ASRGL1 asparaginase like 1 1.873
PSAP prosaposin 1.868
CTSA cathepsin A 1.866
CLN5 ceroid-lipofuscinosis, neuronal 5 1.86
SRP54 signal recognition particle 54kDa 1.79
SRP68 signal recognition particle 68kDa 1.733
PPT1 palmitoyl-protein thioesterase 1 1.708
GLA galactosidase, alpha 1.706
NPC1 Niemann-Pick disease, type C1 1.66
SGSH N-sulfoglucosamine sulfohydrolase 1.656
ACY1 aminoacylase 1 1.653
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 1.647
SRP19 signal recognition particle 19kDa 1.646
ASNSD1 asparagine synthetase domain containing 1 1.641
NPC2 Niemann-Pick disease, type C2 1.64
SRP14 signal recognition particle 14kDa (homologous Alu RNA binding protein) 1.64
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 1.631
SRP9 signal recognition particle 9kDa 1.627
CTSK cathepsin K 1.555
ASPG asparaginase 1.551
DMGDH dimethylglycine dehydrogenase 1.532
NAT9 N-acetyltransferase 9 (GCN5-related, putative) 1.516
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 1.502
DCTPP1 dCTP pyrophosphatase 1 1.464
NAGLU N-acetylglucosaminidase, alpha 1.464
SRP72 signal recognition particle 72kDa 1.446
LAMP1 lysosomal-associated membrane protein 1 1.444
GLB1 galactosidase, beta 1 1.44
TBL2 transducin (beta)-like 2 1.43
ARSB arylsulfatase B 1.422
MCOLN1 mucolipin 1 1.419
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 1.393
GALC galactosylceramidase 1.391
KCTD7 potassium channel tetramerization domain containing 7 1.387
DCTD dCMP deaminase 1.366
PI4K2A phosphatidylinositol 4-kinase type 2 alpha 1.365
ARSA arylsulfatase A 1.362
CTSD cathepsin D 1.358
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 1.355
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 1.347
MKS1 Meckel syndrome, type 1 1.346
PLBD2 phospholipase B domain containing 2 1.343
HPS6 Hermansky-Pudlak syndrome 6 1.337
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 1.33
SI sucrase-isomaltase (alpha-glucosidase) 1.323
TFEB transcription factor EB 1.316
MGAM maltase-glucoamylase 1.313
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1 1.31
GALNS galactosamine (N-acetyl)-6-sulfatase 1.305
TMEM192 transmembrane protein 192 1.269
IDS iduronate 2-sulfatase 1.268
FUCA2 fucosidase, alpha-L- 2, plasma 1.264
GAMT guanidinoacetate N-methyltransferase 1.259
CPS1 carbamoyl-phosphate synthase 1, mitochondrial 1.235
OAT ornithine aminotransferase 1.231
NDP Norrie disease (pseudoglioma) 1.226
TLL1 tolloid-like 1 1.221
CRADD CASP2 and RIPK1 domain containing adaptor with death domain 1.219
SACS sacsin molecular chaperone 1.209
NALCN sodium leak channel, non selective 1.206
MAN2C1 mannosidase, alpha, class 2C, member 1 1.203
UMPS uridine monophosphate synthetase 1.201
MOGS mannosyl-oligosaccharide glucosidase 1.201
BLOC1S1 biogenesis of lysosomal organelles complex-1, subunit 1 1.196
TENM3 teneurin transmembrane protein 3 1.189
ENGASE endo-beta-N-acetylglucosaminidase 1.185
GET3 guided entry of tail-anchored proteins factor 3, ATPase 1.182
TPP1 tripeptidyl peptidase I 1.174
OGA O-GlcNAcase 1.169
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 1.162
LIPA lipase A, lysosomal acid, cholesterol esterase 1.156
LAMP2 lysosomal-associated membrane protein 2 1.146
NPB neuropeptide B 1.14
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) 1.138
SCRN2 secernin 2 1.131
TASP1 taspase, threonine aspartase, 1 1.129
APRT adenine phosphoribosyltransferase 1.125
TMEM255A transmembrane protein 255A 1.119
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 1.107
SCRN3 secernin 3 1.102
POM121L12 POM121 transmembrane nucleoporin-like 12 1.097
BORCS6 BLOC-1 related complex subunit 6 1.095
SUMF1 sulfatase modifying factor 1 1.095
BBS7 Bardet-Biedl syndrome 7 1.093
ADSL adenylosuccinate lyase 1.092
ANKRD29 ankyrin repeat domain 29 1.091
GGTLC1 gamma-glutamyltransferase light chain 1 1.091
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 1.078
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 1.064
CTSS cathepsin S 1.053
PALLD palladin, cytoskeletal associated protein 1.052
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 1.051
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin 1.042
IGF2R insulin-like growth factor 2 receptor 1.027
MTOR mechanistic target of rapamycin (serine/threonine kinase) 1.027
SRPRA SRP receptor subunit alpha 1.022
NEK1 NIMA-related kinase 1 1.018
SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7 1.016
UPF1 UPF1 regulator of nonsense transcripts homolog (yeast) 1.016
ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide 1.008
PRODH proline dehydrogenase (oxidase) 1 1.006
NEU1 sialidase 1 (lysosomal sialidase) 1.004